RGD:15111590 Rat Genome Database

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Variant: RGD:15111590 -  Homo sapiens

RGD ID: 15111590
RS ID: rs767516647
ClinVar ID: CV760267
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TELO2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 1,552,144
GRCh38 16 1,502,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001351846.2:c.1561+8C>T
NM_016111.4:c.1561+8C>T
NG_050910.1:g.13800C>T
NC_000016.10:g.1502143C>T
More... 		04/12/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:TELO2
Accession:NM_016111
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434993
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522778
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434991
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434992
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522773
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522776
Location:INTRON

Gene Symbol:TELO2
Accession:NM_001351846
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434988
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434990
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434987
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522774
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522777
Location:INTRON

Gene Symbol:TELO2
Accession:XM_011522775
Location:INTRON

Gene Symbol:TELO2
Accession:XM_047434989
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000916758 CLINVAR
dbSNP (RS) rs767516647 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TELO2 CLINVAR
OMIM 611140 CLINVAR